Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: COL4A5: 3700C>T; Gln1234Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.

Iscience

Omachi, Kohei K; Kai, Hirofumi H; Roberge, Michel M; Miner, Jeffrey H JH

Publication Date: 2022-03-18

Variant appearance in text: COL4A5: Q1234X

PubMed Link: 35243249

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

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X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.

Frontiers In Medicine

Mastrangelo, Antonio A; Giani, Marisa M; Groppali, Elena E; Castorina, Pierangela P; Soldà, Giulia G; Robusto, Michela M; Fallerini, Chiara C; Bruttini, Mirella M; Renieri, Alessandra A; Montini, Giovanni G

Publication Date: 2020

Variant appearance in text: COL4A5: 3700C>T

PubMed Link: 33330536

Variant Present in the following documents:

• Main text
• fmed-07-580376.pdf

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Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ

Publication Date: 2020-06

Variant appearance in text: COL4A5: Gln1234Ter

PubMed Link: 32203225

Variant Present in the following documents:

• Main text
• 41436_2020_Article_772.pdf

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Molecular testing for adult type Alport syndrome.

Bmc Nephrology

Pont-Kingdon, Genevieve G; Sumner, Kelli K; Gedge, Friederike F; Miller, Chris C; Denison, Joyce J; Gregory, Martin M; Lyon, Elaine E

Publication Date: 2009-11-17

Variant appearance in text: COL4A5: gln1234ter

PubMed Link: 19919694

Variant Present in the following documents:

• Main text
• 1471-2369-10-38.pdf

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